Primary familial brain calcification caused by MYORG mutations in an Italian family.

Authors :: Taglia I
Kuipers DJS
Breedveld GJ
Mignarri A
Dotti MT
Federico A
Bonifati V
Source :: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2019 Oct; Vol. 67, pp. 24-26. Date of Electronic Publication: 2019 Sep 17.
Publication Year :: 2019

Subjects :: Aged
Basal Ganglia Diseases diagnostic imaging
Basal Ganglia Diseases genetics
Basal Ganglia Diseases physiopathology
Brain Stem diagnostic imaging
Brain Stem physiopathology
Calcinosis diagnostic imaging
Calcinosis physiopathology
Cerebellar Diseases diagnostic imaging
Cerebellar Diseases genetics
Cerebellar Diseases physiopathology
Dysarthria diagnostic imaging
Dysarthria genetics
Dysarthria physiopathology
Female
Gait Disorders, Neurologic diagnostic imaging
Gait Disorders, Neurologic genetics
Gait Disorders, Neurologic physiopathology
Heredodegenerative Disorders, Nervous System diagnostic imaging
Heredodegenerative Disorders, Nervous System physiopathology
Humans
Italy
Male
Mutation
Parkinsonian Disorders diagnostic imaging
Parkinsonian Disorders genetics
Parkinsonian Disorders physiopathology
Pedigree
Calcinosis genetics
Glycoside Hydrolases genetics
Heredodegenerative Disorders, Nervous System genetics
Siblings

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